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3 patient data entries collated from reference Brunetti-Pierri et al, 2008.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
478G848S1
Q497H2
W748S5
E1143G
The index patient presented at the age of 8 months with microcephaly, seizures, and developmental delay. From the time of the first observation she rapidly developed epilepsia partialis continua, multifocal myoclonic jerks, and progressive psychomotor retardation. MRI performed at 8 months was generally unremarkable. By 9 months of age the brain MRI showed signifi cant changes including a diffuse severe cerebral and cerebellar atrophy involving gray and white matter.
-epilepsia partialis
-cerebellar atrophy
-developmental delay
-retardation
-microcephaly
infantile
0.6n/a1
479G848S1
Q497H2
W748S5
E1143G
He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
-intractable seizure
-epilepsia partialis
-encephalopathy
infantile
1.250.5n/a
480G848S1
Q497H2
W748S5
E1143G
He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
-intractable seizure
-epilepsia partialis
-encephalopathy
infantile
1.250.5n/a

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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